DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121434420	PKP2	0.851	0.120	12	32879021	stop gained	G/A	snv	4.0E-06	4.9E-05	5
rs397516989	PKP2	0.925	0.080	12	32850932	frameshift variant	-/A	delins			3